A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12314



Internal ID9974836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:22591267..22768169hg38UCSC Ensembl
Innerchr2:22814139..22991041hg19UCSC Ensembl
Innerchr2:22667644..22844546hg18UCSC Ensembl
Innerchr2:22725791..22902693hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38176903
hg19176903
hg18176903
hg17176903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757787
Supporting Variants
SamplesNA19138
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv12314
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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